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Movement Disorders in Treatable Inborn Errors of Metabolism.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1072, doi. 10.1002/mdc3.14157
- By:
- Publication type:
- Article
Transitional Care for Young People with Movement Disorders: Consensus‐Based Recommendations from the MDS Task Force on Pediatrics.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 748, doi. 10.1002/mdc3.13728
- By:
- Publication type:
- Article
The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 149, doi. 10.1002/mdc3.12573
- By:
- Publication type:
- Article
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The evolving spectrum of PRRT2-associated paroxysmal diseases.
- Published in:
- 2015
- By:
- Publication type:
- journal article
AP-4-mediated axonal transport controls endocannabinoid production in neurons.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28609-w
- By:
- Publication type:
- Article
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1403815
- By:
- Publication type:
- Article
Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3531, doi. 10.1002/ajmg.a.62953
- By:
- Publication type:
- Article
Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2590, doi. 10.1002/ajmg.a.62880
- By:
- Publication type:
- Article
Clinical and genetic characterization of <italic>AP4B1</italic>‐associated SPG47.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 311, doi. 10.1002/ajmg.a.38561
- By:
- Publication type:
- Article
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44264-1
- By:
- Publication type:
- Article
Chronic Treatment with Novel Small Molecule Hsp90 Inhibitors Rescues Striatal Dopamine Levels but Not α-Synuclein-Induced Neuronal Cell Loss.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086048
- By:
- Publication type:
- Article
Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.822129
- By:
- Publication type:
- Article
Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 10, p. 2805, doi. 10.1002/acn3.52193
- By:
- Publication type:
- Article
The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 584, doi. 10.1002/acn3.51018
- By:
- Publication type:
- Article
Expansion of the genetic landscape of ERLIN2‐related disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 573, doi. 10.1002/acn3.51007
- By:
- Publication type:
- Article
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 566, doi. 10.1111/cge.14275
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- Publication type:
- Article
Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 51, doi. 10.1002/jimd.12084
- By:
- Publication type:
- Article
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 631, doi. 10.1007/s10545-017-0048-0
- By:
- Publication type:
- Article
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
- By:
- Publication type:
- Article
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab221
- By:
- Publication type:
- Article
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab183
- By:
- Publication type:
- Article
Molecular Chaperones and Co-Chaperones in Parkinson Disease.
- Published in:
- Neuroscientist, 2012, v. 18, n. 6, p. 589, doi. 10.1177/1073858412441372
- By:
- Publication type:
- Article
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype–phenotype correlations.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 1, p. 93, doi. 10.1093/hmg/ddac182
- By:
- Publication type:
- Article
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3588, doi. 10.1093/hmg/ddw204
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- Publication type:
- Article
International electives in the final year of German medical school education -- a student's perspective.
- Published in:
- GMS Zeitschrift für Medizinische Ausbildung, 2014, v. 31, n. 3, p. 1, doi. 10.3205/zma000918
- By:
- Publication type:
- Article
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.
- Published in:
- Movement Disorders, 2024, v. 39, n. 9, p. 1435, doi. 10.1002/mds.29794
- By:
- Publication type:
- Article
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 9, p. 1742, doi. 10.1002/mds.29524
- By:
- Publication type:
- Article
Deep brain stimulation for medically refractory status dystonicus in UBA5‐related disorder.
- Published in:
- Movement Disorders, 2023, v. 38, n. 9, p. 1757, doi. 10.1002/mds.29428
- By:
- Publication type:
- Article
Reply to: Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
- Published in:
- Movement Disorders, 2023, v. 38, n. 5, p. 911, doi. 10.1002/mds.29384
- By:
- Publication type:
- Article
Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
- Published in:
- Movement Disorders, 2022, v. 37, n. 12, p. 2440, doi. 10.1002/mds.29225
- By:
- Publication type:
- Article
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update.
- Published in:
- Movement Disorders, 2022, v. 37, n. 5, p. 905, doi. 10.1002/mds.28982
- By:
- Publication type:
- Article
A special issue on childhood‐onset movement disorders.
- Published in:
- Movement Disorders, 2019, v. 34, n. 5, p. 595, doi. 10.1002/mds.27663
- By:
- Publication type:
- Article
A special issue on childhood-onset movement disorders.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Protein degradation pathways in Parkinson's disease: curse or blessing.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 153, doi. 10.1007/s00401-012-1004-6
- By:
- Publication type:
- Article
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-26347-y
- By:
- Publication type:
- Article
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
- Published in:
- 2017
- By:
- Publication type:
- Interview
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
- Published in:
- 2016
- By:
- Publication type:
- Letter
Parkinson's disease: A disorder of axonal mitophagy?
- Published in:
- 2014
- By:
- Publication type:
- Editorial
Modeling Parkinson's disease in a dish - A story of yeast and men.
- Published in:
- Movement Disorders, 2014, v. 29, n. 1, p. 34, doi. 10.1002/mds.25781
- By:
- Publication type:
- Article
Restoring impaired protein metabolism in Parkinson's disease - TFEB-mediated autophagy as a novel therapeutic target.
- Published in:
- Movement Disorders, 2013, v. 28, n. 10, p. 1346, doi. 10.1002/mds.25601
- By:
- Publication type:
- Article
Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link.
- Published in:
- Movement Disorders, 2013, v. 28, n. 8, p. 1050, doi. 10.1002/mds.25563
- By:
- Publication type:
- Article
The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 30, p. 10762, doi. 10.1523/JNEUROSCI.4796-14.2015
- By:
- Publication type:
- Article